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SKA2 spindle and kinetochore associated complex subunit 2 [ Homo sapiens (human) ]

Gene ID: 348235, updated on 7-Apr-2024

Summary

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Official Symbol
SKA2provided by HGNC
Official Full Name
spindle and kinetochore associated complex subunit 2provided by HGNC
Primary source
HGNC:HGNC:28006
See related
Ensembl:ENSG00000182628 MIM:616674; AllianceGenome:HGNC:28006
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAM33A
Summary
Enables microtubule binding activity. Involved in several processes, including chromosome segregation; mitotic cell cycle; and regulation of microtubule polymerization or depolymerization. Located in spindle microtubule. Part of outer kinetochore. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 9.5), thyroid (RPKM 8.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q22
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (59109857..59155186, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (59977953..60023284, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (57187218..57232547, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1E Neighboring gene ribosomal protein S12 pseudogene 30 Neighboring gene MPRA-validated peak2922 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:57078614-57079813 Neighboring gene tripartite motif containing 37 Neighboring gene RNA, 7SL, cytoplasmic 716, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57183329-57183988 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57183989-57184648 Neighboring gene uncharacterized LOC124904039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12500 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8777 Neighboring gene RNA, U2 small nuclear 58, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12502 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:57235593-57236792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12503 Neighboring gene microRNA 454 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:57259739-57260240 Neighboring gene microRNA 301a Neighboring gene speedy/RINGO cell cycle regulator family member E22, pseudogene Neighboring gene proline rich 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12504 Neighboring gene SMG8 nonsense mediated mRNA decay factor

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Spindle and kinetochore-associated protein 2 facilitates the proliferation and invasion of hepatocellular carcinoma via the regulation of Wnt/β-catenin signaling. Jiang J, et al. Exp Cell Res, 2020 Oct 1. PMID 32682011
  2. The Shift of HbF to HbA under Influence of SKA2 Gene; A Possible Link between Cortisol and Hematopoietic Maturation in Term and Preterm Newborns. Ijabi J, et al. Endocr Metab Immune Disord Drug Targets, 2021. PMID 32364083
  3. SKA2 promotes proliferation and invasion of hepatocellular carcinoma cells via activating the β-catenin signaling pathway. Wang D, et al. Neoplasma, 2020 Jul. PMID 32241158
  4. SKA2 gene - A novel biomarker for latent anxiety and preterm birth prediction. Ijabi J, et al. Eur J Obstet Gynecol Reprod Biol, 2019 Jun. PMID 31035118
  5. SKA2 mediates invasion and metastasis in human breast cancer via EMT. Ren Z, et al. Mol Med Rep, 2019 Jan. PMID 30387823

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SKA2 regulated hyperactive secretory autophagy drives neuroinflammation-induced neurodegeneration.
    Title: SKA2 regulated hyperactive secretory autophagy drives neuroinflammation-induced neurodegeneration.
  2. Decreased mononuclear cell NR3C1 SKA2 and FKPB5 expression levels among adult survivors of suicide bombing terror attacks in childhood are associated with the development of PTSD.
    Title: Decreased mononuclear cell NR3C1 SKA2 and FKPB5 expression levels among adult survivors of suicide bombing terror attacks in childhood are associated with the development of PTSD.
  3. Resting mononuclear cell NR3C1 and SKA2 expression levels predict blunted cortisol reactivity to combat training stress among elite army cadets exposed to childhood adversity.
    Title: Resting mononuclear cell NR3C1 and SKA2 expression levels predict blunted cortisol reactivity to combat training stress among elite army cadets exposed to childhood adversity.
  4. Circ_0008039 supports breast cancer cell proliferation, migration, invasion, and glycolysis by regulating the miR-140-3p/SKA2 axis.
    Title: Circ_0008039 supports breast cancer cell proliferation, migration, invasion, and glycolysis by regulating the miR-140-3p/SKA2 axis.
  5. The Shift of HbF to HbA under Influence of SKA2 Gene; A Possible Link between Cortisol and Hematopoietic Maturation in Term and Preterm Newborns.
    Title: The Shift of HbF to HbA under Influence of SKA2 Gene; A Possible Link between Cortisol and Hematopoietic Maturation in Term and Preterm Newborns.
  6. Transcript levels of spindle and kinetochore-associated complex 1/3 as prognostic biomarkers correlated with immune infiltrates in hepatocellular carcinoma.
    Title: Transcript levels of spindle and kinetochore-associated complex 1/3 as prognostic biomarkers correlated with immune infiltrates in hepatocellular carcinoma.
  7. HEDGEHOG/GLI Modulates the PRR11-SKA2 Bidirectional Transcription Unit in Lung Squamous Cell Carcinomas.
    Title: HEDGEHOG/GLI Modulates the PRR11-SKA2 Bidirectional Transcription Unit in Lung Squamous Cell Carcinomas.
  8. Spindle and kinetochore-associated protein 2 facilitates the proliferation and invasion of hepatocellular carcinoma via the regulation of Wnt/beta-catenin signaling.
    Title: Spindle and kinetochore-associated protein 2 facilitates the proliferation and invasion of hepatocellular carcinoma via the regulation of Wnt/β-catenin signaling.
  9. SKA2 promotes proliferation and invasion of hepatocellular carcinoma cells via activating the beta-catenin signaling pathway.
    Title: SKA2 promotes proliferation and invasion of hepatocellular carcinoma cells via activating the β-catenin signaling pathway.
  10. The results of the current study suggest that prognosis of women with the AA genotype are more susceptible to be spontaneous preterm birth.
    Title: SKA2 gene - A novel biomarker for latent anxiety and preterm birth prediction.
Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12758, MGC110975

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in attachment of mitotic spindle microtubules to kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell division IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chromosome segregation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of microtubule polymerization or depolymerization IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in kinetochore IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of outer kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of outer kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in spindle microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in spindle microtubule IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
spindle and kinetochore-associated protein 2
Names
family with sequence similarity 33, member A
spindle and KT (kinetochore) associated 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001100595.2 → NP_001094065.1  spindle and kinetochore-associated protein 2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1. The biological validity of the predicted protein sequence needs to be experimentally verified.
    Source sequence(s)
    AC099850, BQ019350, DA133216, DB158057
    Consensus CDS
    CCDS45748.1
    UniProtKB/TrEMBL
    J3QKN8
    Related
    ENSP00000411231.2, ENST00000437036.6

  2. NM_001330399.2 → NP_001317328.1  spindle and kinetochore-associated protein 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC099850, AK022820, DA020580, DB158057
    Consensus CDS
    CCDS82175.1
    UniProtKB/TrEMBL
    J3KSP0
    Related
    ENSP00000462574.1, ENST00000583380.5
    Conserved Domains (1) summary
    cd12955
    Location:5 → 100
    SKA2; Spindle and kinetochore-associated protein 2

  3. NM_182620.4 → NP_872426.1  spindle and kinetochore-associated protein 2 isoform 1

    See identical proteins and their annotated locations for NP_872426.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AC099850, BC106003, BQ019350, DB158057
    Consensus CDS
    CCDS45747.1
    UniProtKB/Swiss-Prot
    A6NIL3, B3KPL3, E9PCB8, Q8WVK7
    Related
    ENSP00000333433.7, ENST00000330137.12
    Conserved Domains (1) summary
    cd12955
    Location:5 → 120
    SKA2; Spindle and kinetochore-associated protein 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    59109857..59155186 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    59977953..60023284 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WVK7.1 GenPept UniProtKB/Swiss-Prot:Q8WVK7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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